Early fetal echocardiography: a new challenge in prenatal diagnosis

During the past decade, an increasing number of reports concerning the diagnosis of most major congenital heart defects (CHDs) using early fetal echocardiography (before the 18th week of gestation) have been reported in both low- and high-risk populations for CHD. The finding of increased nuchal translucency seems to be the strongest predictor of CHD during the first trimester. Although some malformations are detected as early as 11 weeks' gestation, the optimal gestational age to perform the early scan is at least 13 weeks' gestation. Transvaginal ultrasound is the preferred approach, although most authors agree that results can be improved if transabdominal ultrasound is also incorporated. The further application of color Doppler enhances visualization. The sensitivity and specificity for the detection of CHD are of an acceptable level, compared with mid-gestational echocardiography. CHDs diagnosed early in pregnancy tend to be more complex than those detected later, with a higher incidence of associated structural malformations, chromosomal abnormalities and spontaneous abortions. The neonate follow-up or postmortem examination in the case of termination of pregnancy is essential to assess the actual role of early fetal echocardiography.